Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.


Results 41-50 of 165 (Search time: 0.002 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2014Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulationLee, K.; Mattiske, T.; Kitamura, K.; Gecz, J.; Shoubridge, C.
2013Phenotype and genotype in 101 males with X-linked creatine transporter deficiencyvan de Kamp, J.; Bratkovic, D.; Poplawski, N.
2013Comparison of stool microbiota compositions, stool alpha1-antitrypsin and calprotectin concentrations, and diarrhoeal morbidity of Indonesian infants fed breast milk or probiotic/prebiotic-supplemented formulaOswari, H.; Prayitno, L.; Dwipoerwantoro, P.; Firmansyah, A.; Makrides, M.; Lawley, B.; Kuhn-Sherlock, B.; Cleghorn, G.; Tannock, G.
2014Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformationsScheffer, I.; Heron, S.; Regan, B.; Mandelstam, S.; Crompton, D.; Hodgson, B.; Licchetta, L.; Provini, F.; Bisulli, F.; Vadlamudi, L.; Gecz, J.; Connelly, A.; Tinuper, P.; Ricos, M.; Berkovic, S.; Dibbens, L.
2014The safety of seasonal influenza vaccines in Australian children in 2013Wood, N.; Blyth, C.; Willis, G.; Richmond, P.; Gold, M.; Buttery, J.; Crawford, N.; Crampton, M.; Yin, J.; Chow, M.; Macartney, K.
2015Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderKumar, R.; Corbett, M.; Smith, N.; Jolly, L.; Tan, C.; Keating, D.; Duffield, M.; Utsumi, T.; Moriya, K.; Smith, K.; Hoischen, A.; Abbott, K.; Harbord, M.; Compton, A.; Woenig, J.; Arts, P.; Kwint, M.; Wieskamp, N.; Gijsen, S.; Veltman, J.; et al.
2015Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversalHaines, B.; Hughes, J.; Corbett, M.; Shaw, M.; Innes, J.; Patel, L.; Gecz, J.; Clayton-Smith, J.; Thomas, P.
2015Developmental disorders: deciphering exomes on a grand scaleGecz, J.; Corbett, M.
2015Gestational dietary protein is associated with sex specific decrease in blood flow, fetal heart growth and post-natal blood pressure of progenyHernandez-Medrano, J.; Copping, K.; Hoare, A.; Wapanaar, W.; Grivell, R.; Kuchel, T.; Miguel-Pacheco, G.; McMillen, I.; Rodgers, R.; Perry, V.; Crispi-Brillas, F.
2010Testicular and paratesticular pathology in children: a 12-year histopathological reviewMarulaiah, M.; Gilhotra, A.; Moore, L.; Boucaut, H.; Goh, D.